The CASQ2 gene homepage

General information
Gene symbol CASQ2
Gene name calsequestrin 2
Chromosome 1
Chromosomal band p13.1
Imprinted Unknown
Genomic reference NG_008802.1
Transcript reference NM_001232.3
Associated with diseases CPVT2
Citation reference(s) -
Curators (2) Florian Bayersdorfer and Sabine Heber
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants -
Date created September 09, 2024
Date last updated September 09, 2024
Version CASQ2:240909

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC HGNC:1513
Entrez Gene 845
PubMed articles CASQ2
OMIM - Gene 114251
OMIM - Diseases CPVT2 (VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2)
HGMD CASQ2
GeneCards CASQ2
GeneTests CASQ2
Orphanet CASQ2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000147 1 mRNA NM_001232.3 NP_001223.2 1


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.